MCID: TRC034
MIFTS: 17

Torch Syndrome

Categories: Rare diseases, Bone diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Torch Syndrome

MalaCards integrated aliases for Torch Syndrome:

Name: Torch Syndrome 49 69

Classifications:



External Ids:

UMLS 69 C0270173

Summaries for Torch Syndrome

MalaCards based summary : Torch Syndrome is related to pseudo-torch syndrome 1 and congenital intrauterine infection-like syndrome. An important gene associated with Torch Syndrome is OCLN (Occludin). Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Torch Syndrome

Graphical network of the top 20 diseases related to Torch Syndrome:



Diseases related to Torch Syndrome

Symptoms & Phenotypes for Torch Syndrome

GenomeRNAi Phenotypes related to Torch Syndrome according to GeneCards Suite gene sharing:

25 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.73 DKC1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.73 DKC1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.73 DKC1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.73 DKC1 USP18
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.73 DKC1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.73 DKC1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.73 USP18
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.73 DKC1 USP18
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.73 DKC1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.73 DKC1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.64 USP18
12 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.64 USP18
13 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.64 DKC1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.64 DKC1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.64 USP18
16 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.64 USP18
17 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.64 USP18
18 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.64 DKC1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.64 DKC1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.64 DKC1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.64 DKC1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.64 DKC1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.64 DKC1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.64 DKC1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.64 USP18
26 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.64 DKC1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.64 USP18
28 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.64 USP18 DKC1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-44 9.64 USP18
30 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.64 DKC1

Drugs & Therapeutics for Torch Syndrome

Search Clinical Trials , NIH Clinical Center for Torch Syndrome

Genetic Tests for Torch Syndrome

Anatomical Context for Torch Syndrome

Publications for Torch Syndrome

Articles related to Torch Syndrome:

# Title Authors Year
1
Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy-Walker malformation. ( 28761539 )
2017
2
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. ( 27325888 )
2016
3
Anaesthetic Management of a Patient with Pseudo-TORCH Syndrome. ( 25207129 )
2013
4
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). ( 12833411 )
2003
5
Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria. ( 11226724 )
2001
6
TORCH syndrome. ( 7640200 )
1995
7
TORCH syndrome and TORCH screening. ( 1972489 )
1990
8
Charts: the TORCH syndrome revisited. ( 2922243 )
1989
9
The TORCH syndrome: a clinical review. ( 2985660 )
1985
10
The "torch syndrome. ( 177938 )
1976

Variations for Torch Syndrome

Expression for Torch Syndrome

Search GEO for disease gene expression data for Torch Syndrome.

Pathways for Torch Syndrome

GO Terms for Torch Syndrome

Sources for Torch Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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